DHCR7 antibody [HL2764]

GeneTex

DHCR7 antibody [HL2764]

9

WB: 1:500-1:10000. *Optimal dilutions/concentrations should be determined by the researcher.Not tested in other applications.

Western Blot

Research Use Only

Monoclonal

HL2764

1 mg/ml

Unconjugated

DHCR7

7-dehydrocholesterol reductase

SLOS, 7-dehydrocholesterol reductase, 7-DHC reductase, cholesterol-5,6-epoxide hydrolase subunit DHCR7, delta-7-dehydrocholesterol reductase, delta7-sterol reductase, putative sterol reductase SR-2, sterol delta-7-reductase, sterol reductase SR-2

Rabbit

IgG

7-dehydrocholesterol reductase

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]

Human

-20°C or -80°C,2°C to 8°C

41116161